Genename Variants
GBP1(NM_002053,guanylate binding protein 1, interferon-inducible,592aa) g.1:89519071T>A,c.1746A>T,p.K582N
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136037790G>A,c.10C>T,p.R4W
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136037753G>A,c.47C>T,p.A16V
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136037742G>A,c.58C>T,p.L20F
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136031315T>C,c.197A>G,p.Y66C
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029645G>T,c.363C>A,p.Y121X
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029611C>T,c.397G>A,p.E133K
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029586C>T,c.422G>A,p.R141Q
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029520C>T,c.488G>A,p.R163Q
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029494C>A,c.514G>T,p.G172C
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029373C>T,c.635G>A,p.R212Q
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029301C>T,c.707G>A,p.R236H
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029280C>T,c.728G>A,p.R243H
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029274C>T,c.734G>A,p.R245H
GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) g.9:136029007C>T,c.1001G>A,p.R334H
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104142056G>A,c.5543G>A,p.R1848H
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104140977C>T,c.5264C>T,p.P1755L
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104140350G>A,c.5077G>A,p.G1693S
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104136853G>A,c.4447G>A,p.V1483M
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104136425G>A,c.4153G>A,p.D1385N
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104136332G>A,c.4060G>A,p.V1354I
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104135315C>T,c.3857C>T,p.T1286I
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104129716A>G,c.3311A>G,p.K1104R
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104129130A>G,c.3133A>G,p.K1045E
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104127254A>C,c.2576A>C,p.K859T
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104126256G>A,c.2423G>A,p.R808H
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104125332T>C,c.2282T>C,p.I761T
GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) g.10:104123072C>T,c.1933C>T,p.H645Y
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org